Variant report

Variant	nsv519587
Chromosome Location	chr6:2097654-2145447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:30)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:2134081..2137218-chr6:2139617..2142589,3	K562	blood:
2	chr6:2110933..2112552-chr6:2126239..2128267,2	MCF-7	breast:
3	chr6:1604456..1604957-chr6:2104229..2104835,2	MCF-7	breast:
4	chr6:2128247..2132613-chr6:2133683..2136448,4	K562	blood:
5	chr6:2040794..2041414-chr6:2132566..2133423,2	MCF-7	breast:
6	chr6:2107952..2110679-chr6:2111605..2113236,2	MCF-7	breast:
7	chr6:2130543..2132757-chr6:2133403..2136232,3	K562	blood:
8	chr6:1612494..1615565-chr6:2103145..2107069,5	MCF-7	breast:
9	chr6:2133819..2135581-chr6:2140564..2142589,2	K562	blood:
10	chr6:1607577..1610037-chr6:2107747..2109346,3	MCF-7	breast:
11	chr6:1616379..1619156-chr6:2096704..2099403,2	MCF-7	breast:
12	chr6:2128247..2132613-chr6:2133683..2136448,4	K562	blood:
13	chr6:1607774..1610426-chr6:2098410..2101344,2	MCF-7	breast:
14	chr6:1609035..1611562-chr6:2103045..2105968,3	MCF-7	breast:
15	chr6:2134081..2137218-chr6:2139617..2142589,3	K562	blood:
16	chr6:1608030..1611197-chr6:2098990..2102744,3	MCF-7	breast:
17	chr6:1596571..1597477-chr6:2104218..2105175,4	K562	blood:
18	chr6:2102993..2105699-chr6:2107973..2110016,2	K562	blood:
19	chr6:2107952..2110679-chr6:2111605..2113236,2	MCF-7	breast:
20	chr6:2133819..2135581-chr6:2140564..2142589,2	K562	blood:
21	chr6:2119577..2122402-chr6:2352666..2355381,2	MCF-7	breast:
22	chr6:2130543..2132757-chr6:2133403..2136232,3	K562	blood:
23	chr6:2110933..2112552-chr6:2126239..2128267,2	MCF-7	breast:
24	chr6:2102993..2105699-chr6:2107973..2110016,2	K562	blood:
25	chr6:2040678..2043654-chr6:2103622..2106281,2	MCF-7	breast:
26	chr6:1610117..1612459-chr6:2103517..2106482,4	MCF-7	breast:
27	chr6:1604255..1605544-chr6:2104014..2105193,5	K562	blood:

(count:30 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXC1-12	chr6:2106666-2106822	NONHSAT106599
2	lnc-FOXC1-12	chr6:2125723-2125802	NONHSAT106599
3	lnc-FOXC1-12	chr6:2107681-2107741	NONHSAT106600
4	lnc-FOXC1-12	chr6:2120363-2120431	NONHSAT106599
5	lnc-FOXC1-12	chr6:2107466-2107557	NONHSAT106599
6	lnc-FOXC1-12	chr6:2122004-2122075	NONHSAT106600
7	lnc-FOXC1-12	chr6:2107681-2107741	NONHSAT106599
8	lnc-FOXC1-12	chr6:2107290-2107350	NONHSAT106600
9	lnc-FOXC1-12	chr6:2122004-2122075	NONHSAT106601
10	lnc-FOXC1-12	chr6:2125895-2126649	NONHSAT106599
11	lnc-FOXC1-12	chr6:2107466-2107557	NONHSAT106600
12	lnc-FOXC1-12	chr6:2106666-2106822	NONHSAT106600
13	lnc-FOXC1-12	chr6:2108159-2108260	NONHSAT106599
14	lnc-FOXC1-12	chr6:2120205-2120250	NONHSAT106600
15	lnc-FOXC1-12	chr6:2108159-2108260	NONHSAT106601
16	lnc-FOXC1-12	chr6:2108159-2108260	NONHSAT106600
17	lnc-FOXC1-12	chr6:2120205-2120250	NONHSAT106599
18	lnc-FOXC1-12	chr6:2107862-2107975	NONHSAT106599
19	lnc-FOXC1-12	chr6:2106666-2106822	NONHSAT106601
20	lnc-FOXC1-12	chr6:2107290-2107350	NONHSAT106599
21	lnc-FOXC1-12	chr6:2120205-2120250	NONHSAT106601
22	lnc-FOXC1-12	chr6:2107290-2107350	NONHSAT106601
23	lnc-FOXC1-12	chr6:2122004-2122075	NONHSAT106599
24	lnc-FOXC1-12	chr6:2107466-2107557	NONHSAT106601
25	lnc-FOXC1-12	chr6:2107681-2107741	NONHSAT106601
26	lnc-FOXC1-12	chr6:2122596-2124499	NONHSAT106601
27	lnc-FOXC1-12	chr6:2107862-2107975	NONHSAT106601
28	lnc-FOXC1-12	chr6:2107862-2107975	NONHSAT106600
29	lnc-FOXC1-12	chr6:2123357-2124499	NONHSAT106600
30	lnc-FOXC1-12	chr6:2122596-2122839	NONHSAT106600

No data

Variant related genes	Relation type
ENSG00000054598	chromatin interactions

Extended variants
information (count: 1765 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1765 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9503096	chr6:2097654-2097655	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs186005454	chr6:2097659-2097660	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs571767365	chr6:2097666-2097667	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4959631	chr6:2097686-2097687	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs550879333	chr6:2097709-2097710	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567862916	chr6:2097712-2097713	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536515956	chr6:2097759-2097760	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190564358	chr6:2097785-2097786	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs146723349	chr6:2097846-2097847	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs538236652	chr6:2097907-2097908	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs183147192	chr6:2097915-2097916	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574981644	chr6:2097917-2097918	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544312597	chr6:2097926-2097927	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560894892	chr6:2098030-2098031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528396348	chr6:2098032-2098033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368797864	chr6:2098054-2098055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115042045	chr6:2098061-2098062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540115199	chr6:2098128-2098129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9378683	chr6:2098148-2098149	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs117894165	chr6:2098149-2098150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199975379	chr6:2098160-2098161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs67604166	chr6:2098161-2098162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201140072	chr6:2098162-2098163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398065486	chr6:2098163-2098164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6596870	chr6:2098226-2098227	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs200247696	chr6:2098243-2098244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201224859	chr6:2098256-2098257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565312242	chr6:2098266-2098267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549067168	chr6:2098302-2098303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139286291	chr6:2098305-2098306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567707433	chr6:2098328-2098329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141855072	chr6:2098329-2098330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567233303	chr6:2098332-2098333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546916365	chr6:2098353-2098354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1969668	chr6:2098380-2098381	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs9503097	chr6:2098431-2098432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538972634	chr6:2098453-2098454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558097440	chr6:2098454-2098455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566086956	chr6:2098466-2098467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568536820	chr6:2098529-2098530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376914165	chr6:2098541-2098542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537499852	chr6:2098554-2098555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1969667	chr6:2098581-2098582	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147101652	chr6:2098583-2098584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539346604	chr6:2098593-2098594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371804423	chr6:2098636-2098637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534724061	chr6:2098641-2098642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187769025	chr6:2098648-2098649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559157942	chr6:2098678-2098679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554038447	chr6:2098682-2098683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2065000-2117400	Weak transcription	Pancreas	Pancrea
2	chr6:2078800-2103800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:2079000-2108800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:2081000-2108800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:2081200-2104000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:2081200-2104200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:2081200-2113000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:2081600-2131800	Weak transcription	Fetal Intestine Small	intestine
9	chr6:2082800-2109000	Weak transcription	Primary T cells from cord blood	blood
10	chr6:2086800-2102600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:2087000-2097800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:2087400-2104200	Weak transcription	NHDF-Ad	bronchial
13	chr6:2088800-2112200	Weak transcription	Small Intestine	intestine
14	chr6:2092000-2104200	Weak transcription	HepG2	liver
15	chr6:2097400-2098000	Active TSS	Aorta	Aorta
16	chr6:2097800-2098000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:2098000-2099800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:2098000-2101600	Weak transcription	Aorta	Aorta
19	chr6:2099000-2099400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:2099200-2099600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:2099200-2099800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:2099400-2099800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr6:2099400-2109200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:2101000-2101800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:2101200-2104200	Enhancers	Hela-S3	cervix
26	chr6:2101400-2104000	Enhancers	Osteobl	bone
27	chr6:2101600-2101800	Flanking Active TSS	Aorta	Aorta
28	chr6:2101600-2102600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:2101800-2102000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:2101800-2104600	Active TSS	Aorta	Aorta
31	chr6:2102000-2102400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:2102400-2103000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr6:2102400-2103000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:2102400-2104000	Enhancers	HUVEC	blood vessel
35	chr6:2102400-2104200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:2102600-2103000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr6:2102600-2103000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:2102600-2103000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr6:2102600-2103400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:2102600-2104200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:2102600-2104200	Enhancers	Liver	Liver
42	chr6:2102800-2105000	Enhancers	A549	lung
43	chr6:2103000-2104000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr6:2103000-2104000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:2103000-2104000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:2103000-2104200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:2103000-2104200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:2103200-2103400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
49	chr6:2103200-2104600	Active TSS	Brain Anterior Caudate	brain
50	chr6:2103400-2104000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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